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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 28"
Page 1
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS, Oziębło D, Skarżyński H, Ołdak M. Gan NS, et al. Audiol Neurootol. 2023;28(5):327-337. doi: 10.1159/000529464. Epub 2023 Apr 28. Audiol Neurootol. 2023. PMID: 37121227 Free article. Review.
Around half of the diagnosed prelingual HL cases have a genetic cause and it is usually inherited in an autosomal recessive mode. Postlingual HL caused by genetic changes generally has an autosomal dominant pattern of inheritance and its incidence remains unk …
Around half of the diagnosed prelingual HL cases have a genetic cause and it is usually inherited in an autosomal recessive mo …
Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
El Fizazi K, Abbassi M, Nmer S, Laamarti H, ElAlami MN, Ouldim K, Bouguenouch L, Ridal M. El Fizazi K, et al. Audiol Neurootol. 2024;29(3):216-223. doi: 10.1159/000535346. Epub 2024 Jan 22. Audiol Neurootol. 2024. PMID: 38253033
INTRODUCTION: Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2 gene are a major cause of autosomal recessive nonsyndromic hearing loss (NSHL) worldwide. However, the mutation profile of GJB2 in NSHL is under-investig …
INTRODUCTION: Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2 gene are a major cause of autosomal re …
Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
Bai X, Nian S, Feng L, Ruan Q, Luo X, Wu M, Yan Z. Bai X, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e808. doi: 10.1002/mgg3.808. Epub 2019 Jun 28. Mol Genet Genomic Med. 2019. PMID: 31250571 Free PMC article.
BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common sensorineural disorder and one of the most common human defects. Autosomal recessive inheritance accounts for a huge percentage of familial cases. ...
BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common sensorineural disorder and one of the most common human …
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P. Gao X, et al. Neural Plast. 2017;2017:3192090. doi: 10.1155/2017/3192090. Epub 2017 Jun 13. Neural Plast. 2017. PMID: 28695016 Free PMC article.
In our previous study, three pathogenic mutations in TMPRSS3 were identified in one Chinese family. To evaluate the importance of TMPRSS3 mutations in recessive deafness among the Chinese, we screened 150 autosomal recessive nonsyndromic hearing …
In our previous study, three pathogenic mutations in TMPRSS3 were identified in one Chinese family. To evaluate the importance of TMPRSS3 mu …
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
Gao X, Zhu QY, Song YS, Wang GJ, Yuan YY, Xin F, Huang SS, Kang DY, Han MY, Guan LP, Zhang JG, Dai P. Gao X, et al. J Transl Med. 2013 Nov 9;11:284. doi: 10.1186/1479-5876-11-284. J Transl Med. 2013. PMID: 24206587 Free PMC article.
BACKGROUND: Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiolo …
BACKGROUND: Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in …
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L. Liu X, et al. Ann Otol Rhinol Laryngol. 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. Ann Otol Rhinol Laryngol. 1994. PMID: 8203808
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 (12 families) with autosomal dominant (AD) loss, 50 (15 families) with autosomal recessive (AR) loss, and 3 (1 fam …
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There wer …
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Kelley PM, et al. Am J Hum Genet. 1998 Apr;62(4):792-9. doi: 10.1086/301807. Am J Hum Genet. 1998. PMID: 9529365 Free PMC article.
This study describes the analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal recessive nonsyndromic deafness. Twenty of the 58 families were observed to have mutations in both alleles of Cx26. ...The mi …
This study describes the analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal rec …
De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
Huang S, Yuan Y, Liu J, Han D, Kang D, Zhang X, Dong M, Yan X, Dai P. Huang S, et al. Int J Pediatr Otorhinolaryngol. 2011 Oct;75(10):1333-6. doi: 10.1016/j.ijporl.2011.07.033. Epub 2011 Aug 24. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21868108
BACKGROUND: Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. ...
BACKGROUND: Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing los …